research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
Search
forResearch
5 / 70 resultsresearch Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells.
This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
research 010 Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus
This study developed a pemphigus model in mice showing that anti-Desmocollin 3 and anti-Desmoglein 3 antibodies lead to more severe disease, suggesting diverse antigens contribute to varying human pemphigus phenotypes.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
In this study, researchers developed a pemphigus mouse model expressing anti-Desmocollin 3 antibodies and found it mimicked atypical pemphigus with distinct pathological features compared to the standard Desmoglein 3 model.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
Learn
— no results
Community Join
— no results
Experts
— no results
Clinics
— no results